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Summary
CYSTIC FIBROSIS (CF)
CYSTIC FIBROSIS CYSTIC FIBROSIS
219700
OMIM = Online Medalian Inheritance of Men
586
7q31.2, 19q13.2
  • aerolized rhDNase
  • anti-inflammatory therapy (ibuprofen)
  • antibiotics
  • heart/lung/pancreas/liver transplantation
  • high-caloric nutrition
  • mycolytics
  • pancreatic enzymes
  • physiotherapy
  • vitamin A
  • vitamin D
  • vitamin E (alpha-tocopherol)
  • vitamin K
rare (1:4.000 Europe)
autosomal recessive
symptoms
amyloidosis
anosmia
bronchiectasia
cirrhosis or fibrosis of liver
cor pulmonale
diabetes mellitus
failure to thrive
gallstones, cholelithiasis
growth retardation
ileus
infections (severe or recurrent)
jaundice
liver failure
nasal polyposis
onset, adolescent
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
osteoporosis
pancreatic insufficiency
pneumonia
pseudotumor cerebri
pulmonary hypertension
rectal prolaps
respiratory insufficiency
laboratory finding
Chloride50.0080.0020.0030.00mmol/lsweat
Sodium50.0080.0020.0030.00mmol/lsweat
Immunglobulin IgA 22.0044.00increasedserum, blood spots
DNA
Vitamin D decreasedserum
Vitamin A decreasedserum
Vitamin E decreasedserum
Glucose tolerance, impaired serum
Calcium increasedurine
Literature
Muehlhausen C,et al.Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatmentJ Inherit Metab Dis375775-7812014
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Nakajima Het al.Phosphofructokinase deficiency past, present and futureCurr Mol Med22197-2122002
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Exantus Jet al.Acute renal failure in a patient with phosphofructokinase deficiencyPediatr Nephrol191111-1132004
Cheng LSet al.Genomewide scan for gout in taiwanese aborigines reveals linkage to chromosome 4q25Am J Hum Genet753498-5032004
Haack TB,et al.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementAnn Clin Transl Neurol25492-5092015
Accominotti Met al.Determination of zinc in blood serum by electrothermal atomic absorption with matrix modificationClin Chim Acta1790991988
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991